Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive genetic disorder. Impaired cortisol production leads to increased adrenocorticotropic hormone (ACTH) levels. Testicular adrenal rest tumor (TART) is a complication of CAH. It is a rare clinical condition usually presented as testicular masses. TARTs may be misdiagnosed as testicular Leydig cell tumors. We report a case of congenital adrenal hyperplasia (CAH) due to 11-beta hydroxylase enzyme deficiency who underwent left orchiectomy for testicular tumors and took a diagnosis of Leydig cell tumor. A 44 year old male born to a consanguineous marriage took a diagnosis of CAH due to 11-beta hydroxylase deficiency at age 10 while being investigated for high blood pressure and short stature. His height was 140 cm, weight was 58 kg and had left gynecomastia. He had two brothers one with CAH. He was taking 5 mg amlodipin and his blood pressure was normal. While using methylprednisolon until very recently he had been started dexamethasone for the high levels of ACTH. After using dexamethasone for 4 months he admitted to our clinic with complaint of excess weight gain. His ACTH level was 259 pg/ml. His therapy was changed to hydrocortisone. After he was started to hydrocortisone therapy his weight gain stopped. The patient came to control after 1 year. He had complaints of testicular pain and darkening of his skin at face. His ACTH level 1858 pg/ml. A scrotal ultrasonography was performed; 4 hypoechoic, highly vascularised testicular masses were detected; the biggest was 10×6 mm in diameter. His alpha-fetoprotein and beta-HCG levels were normal. The patient admitted to the urology clinic, left orchiectomy was performed. The patient came to our clinic with his pathology report which was consistent with Leydig cell tumor. Thinking possibility of a TART the pathology report was asked to be reviewed again and the report was revised as TART. In immunohistochemical study CD56 staining was focal positive, inhibin was strongly positive, calretinin was weakly positive and androgen receptors were negative supporting TART. He has been started low dose dexamethasone therapy. His ACTH level was 256 pg/ml after 0.25 mg/day dexamethasone therapy. It is important to distinguish Leydig cell tumors from TART in patients with CAH.